BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 30979366)

  • 1. Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report.
    Yu F; Wang J; Xu X
    BMC Pediatr; 2019 Apr; 19(1):109. PubMed ID: 30979366
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.
    Chang KC; Lin PH; Su YN; Peng SS; Lee NC; Chou HC; Chen CY; Hsieh WS; Tsao PN
    J Bone Miner Metab; 2012 Jan; 30(1):109-13. PubMed ID: 21638016
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
    Uday S; Matsumura T; Saraff V; Saito S; Orimo H; Högler W
    Bone; 2019 Oct; 127():9-16. PubMed ID: 31146036
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
    Mao X; Liu S; Lin Y; Chen Z; Shao Y; Yu Q; Liu H; Lu Z; Sheng H; Lu X; Huang Y; Liu L; Zeng C
    BMC Pediatr; 2019 Nov; 19(1):456. PubMed ID: 31760938
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
    Tenorio J; Álvarez I; Riancho-Zarrabeitia L; Martos-Moreno GÁ; Mandrile G; de la Flor Crespo M; Sukchev M; Sherif M; Kramer I; Darnaude-Ortiz MT; Arias P; Gordo G; Dapía I; Martinez-Villanueva J; Gómez R; Iturzaeta JM; Otaify G; García-Unzueta M; Rubinacci A; Riancho JA; Aglan M; Temtamy S; Hamid MA; Argente J; Ruiz-Pérez VL; Heath KE; Lapunzina P
    Am J Med Genet A; 2017 Mar; 173(3):601-610. PubMed ID: 28127875
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
    Watanabe A; Karasugi T; Sawai H; Naing BT; Ikegawa S; Orimo H; Shimada T
    J Hum Genet; 2011 Feb; 56(2):166-8. PubMed ID: 21179104
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
    Glotov OS; Savostyanov KV; Nagornova TS; Chernov AN; Fedyakov MA; Raspopova AN; Krasnoukhov KN; Danilov LG; Moiseeva NV; Kalinin RS; Tsai VV; Eismont YA; Voinova VY; Vitebskaya AV; Gurkina EY; Kuzenkova LM; Sosnina IB; Pushkov AA; Zhanin IS; Zakharova EY
    Int J Mol Sci; 2022 Oct; 23(21):. PubMed ID: 36361766
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Utility of genetic testing for prenatal presentations of hypophosphatasia.
    Sperelakis-Beedham B; Taillandier A; Domingues C; Guberto M; Colin E; Porquet-Bordes V; Rothenbuhler A; Salles JP; Wenkert D; Zankl A; Muti C; Bacrot S; Simon-Bouy B; Mornet E
    Mol Genet Metab; 2021 Mar; 132(3):198-203. PubMed ID: 33549410
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
    Mornet E; Taillandier A; Domingues C; Dufour A; Benaloun E; Lavaud N; Wallon F; Rousseau N; Charle C; Guberto M; Muti C; Simon-Bouy B
    Eur J Hum Genet; 2021 Feb; 29(2):289-299. PubMed ID: 32973344
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.
    Hofmann C; Liese J; Schwarz T; Kunzmann S; Wirbelauer J; Nowak J; Hamann J; Girschick H; Graser S; Dietz K; Zeck S; Jakob F; Mentrup B
    Bone; 2013 Jul; 55(1):150-7. PubMed ID: 23454488
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
    Kato M; Hattori T; Shimizu T; Ninagawa K; Izumihara R; Nomoto H; Tanimura K; Atsumi T
    J Bone Miner Metab; 2020 Nov; 38(6):903-907. PubMed ID: 32772198
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
    Baumgartner-Sigl S; Haberlandt E; Mumm S; Scholl-Bürgi S; Sergi C; Ryan L; Ericson KL; Whyte MP; Högler W
    Bone; 2007 Jun; 40(6):1655-61. PubMed ID: 17395561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.
    Sawai H; Kanazawa N; Tsukahara Y; Koike K; Udagawa H; Koyama K; Mornet E
    Prenat Diagn; 2003 Sep; 23(9):743-6. PubMed ID: 12975786
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Perinatal hypophosphatasia caused by uniparental isodisomy.
    Watanabe A; Satoh S; Fujita A; Naing BT; Orimo H; Shimada T
    Bone; 2014 Mar; 60():93-7. PubMed ID: 24334170
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.
    Watanabe A; Yamamasu S; Shinagawa T; Suzuki Y; Miyake H; Takeshita T; Orimo H; Shimada T
    J Nippon Med Sch; 2007 Feb; 74(1):65-9. PubMed ID: 17384481
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hypophosphatasia.
    Mornet E
    Orphanet J Rare Dis; 2007 Oct; 2():40. PubMed ID: 17916236
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
    Michigami T; Tachikawa K; Yamazaki M; Kawai M; Kubota T; Ozono K
    Calcif Tissue Int; 2020 Mar; 106(3):221-231. PubMed ID: 31707452
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and genetic characteristics of hypophosphatasia in Chinese children.
    Liu M; Liu M; Liang X; Wu D; Li W; Su C; Cao B; Chen J; Gong C
    Orphanet J Rare Dis; 2021 Apr; 16(1):159. PubMed ID: 33827627
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
    Araci MB; Akgun B; Atik T; Isik E; Ak G; Barutcuoglu B; Ozkinay F
    Ann Clin Biochem; 2021 Jul; 58(4):335-341. PubMed ID: 33601892
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.
    Hough TA; Polewski M; Johnson K; Cheeseman M; Nolan PM; Vizor L; Rastan S; Boyde A; Pritzker K; Hunter AJ; Fisher EM; Terkeltaub R; Brown SD
    J Bone Miner Res; 2007 Sep; 22(9):1397-407. PubMed ID: 17539739
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.